Results 111 to 120 of about 215,224 (198)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Loss of mechanical stress induces synovitis, fibrosis and articular cartilage degeneration via distinct synovial cell subsets. [PDF]

Sci Rep
Ishikura H, Okada H, Kin Y, Chijimatsu R, Higuchi J, Miyahara J, Tachibana N, Nagata K, Terashima A, Yano F, Omata Y, Seki M, Suzuki Y, Baron R, Tanaka S, Saito T.   +15 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Nasal dorsal augmentation using diced cartilage with and without semi-circumferential fascia: technical note and retrospective monocentric study. [PDF]

Front Surg
Pincet L, Lambercy K, Conty Lupascu F, Pasche P, Reinhard A.   +4 more
europepmc   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source

The osteochondral regeneration paradox: why biomimetic scaffolds are biologically superior but injectable systems dominate the clinic. [PDF]

RSC Adv
Gubert S, Moon H, Oliva N, Texidó R.
europepmc   +1 more source

Animal models of benign airway stenosis: Advances in construction techniques, evaluation systems, and perspectives

Animal Models and Experimental Medicine, EarlyView.
Currently, the animals commonly used to establish animal models of benign airway stenosis (BAS) include mice, rats, pigs, dogs, rabbits, and ferrets. The establishment methods involve one or a combination of two methods such as mechanical injury, tracheal cautery, cuff overpressure intubation, laser injury, and endoscopic silver nitrate cauterization ...
Wusheng Zhang, Yilin Chen, Chengcheng Yang, Yuchao Dong, Haidong Huang, Hui Shi, Chong Bai   +6 more
wiley   +1 more source

Nucleic acid-based therapeutics to restore joint homeostasis in age-related and post-traumatic arthritis. [PDF]

NPJ Biomed Innov
Rai MF, Pham CT, Hou K, Wickline SA, Pan H.   +4 more
europepmc   +1 more source